rs397514600

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs397514600(C;C)

Make rs397514600(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

67174230

Gene

NOL3

is a	snp
is	mentioned by
dbSNP	rs397514600
dbSNP (classic)	rs397514600
ClinGen	rs397514600
ebi	rs397514600
HLI	rs397514600
Exac	rs397514600
Gnomad	rs397514600
Varsome	rs397514600
LitVar	rs397514600
Map	rs397514600
PheGenI	rs397514600
Biobank	rs397514600
1000 genomes	rs397514600
hgdp	rs397514600
ensembl	rs397514600
geneview	rs397514600
scholar	rs397514600
google	rs397514600
pharmgkb	rs397514600
gwascentral	rs397514600
openSNP	rs397514600
23andMe	rs397514600
SNPshot	rs397514600
SNPdbe	rs397514600
MSV3d	rs397514600
GWAS Ctlg	rs397514600

Max Magnitude

0

ClinVar
Risk	rs397514600(C;C)
Alt	rs397514600(C;C)
Reference	Rs397514600(G;G)
Significance	Pathogenic
Disease	Myoclonus
Variation	info
Gene	NOL3
CLNDBN	Myoclonus, familial cortical
Reversed	0
HGVS	NC_000016.9:g.67208133G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033024.2,